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PEPD

Synonyms
PROLIDASE
External resources
Summary
This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
16
Likely pathogenic
0
VUS
3,042
Likely benign
4,008
Benign
198

Patient phenotypes

Proportions of phenotypes among 16 patients carrying pathogenic or likely pathogenic variants on PEPD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the cardiovascular system
18.8%
Abnormality of the immune system
18.8%
Abnormality of the genitourinary system
12.5%
Abnormality of the integument
12.5%
Abnormal cellular phenotype
6.3%
Abnormality of head or neck
6.3%
Abnormality of limbs
6.3%
Abnormality of the digestive system
6.3%
Abnormality of the ear
6.3%
Abnormality of the nervous system
6.3%
Growth abnormality
6.3%
Neoplasm
6.3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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